日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity

CRB1视网膜病中新的基因型-表型相关性:来自与疾病严重程度相关的亚型和蛋白质结构域的启示

Rodriguez-Martinez, Ana Catalina; Méjécase, Cécile; Tailor-Hamblin, Vijay K; Higgins, Bethany E; Henderson, Robert H; Moosajee, Mariya

Metabolomic signatures suggest altered bile acid and energy metabolism in CRB1- retinopathies

代谢组学特征提示CRB1视网膜病变中胆汁酸和能量代谢发生改变

Rodriguez-Martinez, Ana Catalina; Nair, Neelima; Skinner, Jane; Welch, Ailsa A; Malka, Samantha; Moosajee, Mariya

The Global Burden of Cholesteatoma: A Systematic Review and Meta-analysis

全球胆脂瘤负担:系统评价和荟萃分析

Melariri, Herbert; Balakrishna, Yusentha; Mukhtar, Abdiwahab; Joseph, Elizabeth; Labuschagne, Simone; Hapunda-Chibanga, Racheal; Finestone, Sara; Bosman, Allison; Ukaegbe, Onyinyechi; Werkineh, Haben Birhane; Merven, Marc; Seguya, Amina; Melariri, Blessing; Mokoh, Lillian; Els, Timothy; Tharratt, Daniel; Murtaza, Amir; Moosajee, Mohamed; Harris, Tashneem; Onotai, Lucky; Amir, Ida; Melariri, Paula

GLI2 and FLNB Define Periocular Morphoeic Basal Cell Carcinoma

GLI2 和 FLNB 定义眼周硬皮病基底细胞癌

Bladen, John C; Wang, Jun; Moosajee, Mariya; Rahman, Muhammad; Sangaralingam, Ajanthah; Gogna, Vijay K; Chelala, Claude; O'Toole, Edel A; Philpott, Michael P

Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review

非综合征型儿童青光眼与前节发育不良相关的遗传基础:叙述性综述

Cronbach, Nicola; Méjécase, Cécile; Moosajee, Mariya

A Phenotypic Study of CRB1 Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry

针对黑人非洲裔人群中常见的p.(Pro836Thr)变异体引起的CRB1视网膜病变的表型研究

Wong, Wendy M; Robson, Anthony G; Baker, Rebecca A; Arno, Gavin; Van Aerschot, Joseph; Lin, Siying; Moosajee, Mariya; Michaelides, Michel; Mahroo, Omar A; Webster, Andrew R

Elevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing

CRB1相关视网膜病变中视觉拥挤效应增强:利用儿童友好型计算机化测试了解功能性视觉缺陷

Rodriguez-Martinez, Ana Catalina; Tailor-Hamblin, Vijay K; Higgins, Bethany E; Jones, Pete R; Dekker, Tessa M; Henderson, Robert H; Greenwood, John A; Moosajee, Mariya

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype

PRX基因最后一个内含子异常剪接导致显性先天性白内障,但无神经系统表型

Reis, Linda M; Bellingham, James; Motta, Fabiana Louise; Jurkute, Neringa; Raskin, Salmo; Ramos, Fabiana; Mahroo, Omar A; Moosajee, Mariya; Arno, Gavin; Semina, Elena V

Genome-Wide Insights Into the Genes and Pathways Shaping Human Foveal Development: Redefining the Genetic Landscape of Foveal Hypoplasia

基因组层面揭示人类中央凹发育相关基因和通路:重新定义中央凹发育不全的遗传图谱

Hunt, Callum; Yoon, Ha-Jun; Lirio, Alvin; Coley, Kayesha; Wang, Jun; Shrine, Nick; Shao, Jianming; Maconachie, Gail D E; Tu, Zhanhan; Zippin, Jonathan H; Hysi, Pirro G; Hammond, Christopher J; Mahroo, Omar A; Moosajee, Mariya; Michaelides, Michel; Webster, Andrew R; Moshiri, Ala; Chen, Rui; Tobin, Martin D; Batini, Chiara; Thomas, Mervyn G

Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom

对英国3500多名遗传性视网膜疾病患者的分子特征队列进行眼底自发荧光特征的定量分析

Woof, William A; de Guimarães, Thales A C; Al-Khuzaei, Saoud; Daich Varela, Malena; Sen, Sagnik; Bagga, Pallavi; Mendes, Bernardo; Shah, Mital; Burke, Paula; Parry, David; Lin, Siying; Naik, Gunjan; Ghoshal, Biraja; Liefers, Bart J; Fu, Dun Jack; Georgiou, Michalis; Nguyen, Quang; Sousa da Silva, Alan; Liu, Yichen; Fujinami-Yokokawa, Yu; Sumodhee, Dayyanah; Patel, Praveen; Furman, Jennifer; Moghul, Ismail; Moosajee, Mariya; Sallum, Juliana; De Silva, Samantha R; Lorenz, Birgit; Holz, Frank G; Fujinami, Kaoru; Webster, Andrew R; Mahroo, Omar A; Downes, Susan M; Madhusudhan, Savita; Balaskas, Konstantinos; Michaelides, Michel; Pontikos, Nikolas